Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives

Epidermolysis bullosa simplex (EBS) is a genetic disorder causing skin blistering due to mutations in keratin genes KRT5 and KRT14. The review highlights inflammation's role in EBS pathogenesis, with cytokines like IL-1β and IL-6 being significant contributors. Various signaling pathways, including JNK, IFN-γ, PI3K/Akt/mTOR, and Wnt-receptor, exacerbate symptoms. Promising therapeutic strategies include anti-inflammatory treatments, tetracycline antibiotics, diacerein cream, mTOR inhibitors, and gene editing techniques like CRISPR-Cas9. Despite challenges such as genetic variability and the rarity of EBS, these approaches offer hope for effective treatments, though larger clinical trials are necessary to confirm their efficacy and safety.